COPA (COPI coat complex subunit alpha)

2007-02-01  

Identity

HGNC
LOCATION
1q23.2
LOCUSID
ALIAS
AILJK,HEP-COP,alpha-COP
FUSION GENES

Other Information

Locus ID:

NCBI: 1314
MIM: 601924
HGNC: 2230
Ensembl: ENSG00000122218

Variants:

dbSNP: 1314
ClinVar: 1314
TCGA: ENSG00000122218
COSMIC: COPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122218ENST00000241704P53621
ENSG00000122218ENST00000368069P53621
ENSG00000122218ENST00000647683A0A3B3IT15
ENSG00000122218ENST00000647799A0A3B3ITX2
ENSG00000122218ENST00000647899A0A3B3IU89
ENSG00000122218ENST00000648280A0A3B3ITI7
ENSG00000122218ENST00000648501A0A3B3IU78
ENSG00000122218ENST00000648805A0A3B3ISK1
ENSG00000122218ENST00000649231A0A3B3ITV3
ENSG00000122218ENST00000649676A0A3B3ISC6
ENSG00000122218ENST00000649787A0A3B3IS84
ENSG00000122218ENST00000649963A0A3B3IU84
ENSG00000122218ENST00000650154A0A3B3IS23

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
258945022015COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.56
213006942011The COPI vesicle complex binds and moves with survival motor neuron within axons.37
223355532012Electron tomography reveals Rab6 is essential to the trafficking of trans-Golgi clathrin and COPI-coated vesicles and the maintenance of Golgi cisternal number.32
125862952003Positional mapping for amplified DNA sequences on 1q21-q22 in hepatocellular carcinoma indicates candidate genes over-expression.24
231991682013Appetite-regulating hormones from the upper gut: disrupted control of xenin and ghrelin in night workers.23
237278372013Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy.21
195090592009Yip1A regulates the COPI-independent retrograde transport from the Golgi complex to the ER.16
291376212017COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.9
295928742018Decreased A-to-I RNA editing as a source of keratinocytes' dsRNA in psoriasis.5
306310792019GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.4

Citation

Dessen P

COPA (COPI coat complex subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46159/copa-(copi-coat-complex-subunit-alpha)